Thalassemia Patients and Friends
Discussion Forums => Miscellaneous Questions => Topic started by: Manal on April 19, 2009, 12:35:17 AM
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Does the CVS or the aminothenthesis detemines whether the baby will be a thal intermedia or major,i mean it investigates the presence of mutation only or the type too??
manal
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Manal,
When we did the CVS,they told us our son didn't have thal,when i asked if he was thal minor or totally normal,they said we can't tell you if he has minor we just know that he doesn't have thal major.
Hope this helps :huh
Zaini.
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Thanks Zaini, but it is really strange cause to determine thal major, they have to look at the two globin genes to see if they are muted or not, so this means they can tell if he was a minor or not :huh :huh :huh
manal
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Manal,
I remember they took blood samples of my husband and mine and i think Lil Z's too :huh.
The report says
"Prenatal Diagnosis of Beta Thalassemia by Polymerase Chain Reaction (PCR).
Mutations Identified:
Mother : Heterozygous for IVS1-1 Mutation
Father : Heterozygous for IVS1-5 Mutation
CVS : Normal for IVS-1 and IVS-5 Mutation
Interpretation : The CVS is found to be normal."
There is so much written under it,i'll post it too if you want me to :) .
Zaini.
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Thanks Zaini
manal